Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

17 matching diseasesClear search ×

OBSOLETE: Infantile neuronal ceroid lipofuscinosis

OBSOLETE: INCL · OBSOLETE: Infantile NCL

ORPHA:79263

Infantile glycine encephalopathy

Infantile NKH · Infantile non-ketotic hyperglycinemia

ORPHA:289860

OBSOLETE: Adult neuronal ceroid lipofuscinosis

OBSOLETE: ANCL · OBSOLETE: Adult NCL

ORPHA:79262

OBSOLETE: Bullous systemic lupus erythematosus

OBSOLETE: BSLE

ORPHA:46489

OBSOLETE: Congenital neuronal ceroid lipofuscinosis

OBSOLETE: Congenital NCL

ORPHA:168486

OBSOLETE: Ehlers-Danlos syndrome type 1

OBSOLETE: EDS I

ORPHA:90309

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1

OBSOLETE: 18-hydroxylase deficiency · OBSOLETE: Aldosterone synthase deficiency

ORPHA:99763

OBSOLETE: Giant infantile hemangioma

ORPHA:210592

OBSOLETE: Immunoproliferative small intestinal disease

OBSOLETE: IPSID · OBSOLETE: Mediterranean lymphoma

ORPHA:103915

OBSOLETE: Infantile axonal neuropathy

ORPHA:2679

OBSOLETE: Infantile epilepsy syndrome

ORPHA:98258

OBSOLETE: Infantile non-syndromic cataract

ORPHA:217052

OBSOLETE: Infantile striatothalamic degeneration

ORPHA:1575

OBSOLETE: Infantile thalamic degeneration

ORPHA:1577

OBSOLETE: Juvenile neuronal ceroid lipofuscinosis

OBSOLETE: Juvenile NCL · OBSOLETE: Juvenile CLN disease

ORPHA:79264

OBSOLETE: Late infantile neuronal ceroid lipofuscinosis

OBSOLETE: Late infantile NCL · OBSOLETE: Jansky-Bielschowsky disease

ORPHA:168491

OBSOLETE: Spastic diplegia, infantile type

OBSOLETE: Little syndrome

ORPHA:1680